Variant report

Variant	rs838619
Chromosome Location	chr3:143184662-143184663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143183215..143184884-chr3:143201096..143202631,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10212321	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10212557	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1097938	0.99[ASN][1000 genomes]
rs1097939	0.99[ASN][1000 genomes]
rs1097940	1.00[ASN][1000 genomes]
rs12490020	0.97[ASN][1000 genomes]
rs13059261	0.84[YRI][hapmap]
rs13078996	0.86[YRI][hapmap]
rs1525010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1525011	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1530215	0.99[ASN][1000 genomes]
rs1530216	0.99[ASN][1000 genomes]
rs1660477	0.99[ASN][1000 genomes]
rs1660481	0.99[ASN][1000 genomes]
rs16853629	0.99[ASN][1000 genomes]
rs1723028	0.99[ASN][1000 genomes]
rs1723031	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723034	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852059	0.99[ASN][1000 genomes]
rs1978912	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2582354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57914974	0.99[ASN][1000 genomes]
rs60765365	0.99[ASN][1000 genomes]
rs66508148	0.99[ASN][1000 genomes]
rs66599925	0.94[ASN][1000 genomes]
rs6768834	0.99[ASN][1000 genomes]
rs6779984	0.99[ASN][1000 genomes]
rs6780280	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6793614	0.99[ASN][1000 genomes]
rs6802358	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6804097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs716748	1.00[ASN][1000 genomes]
rs838605	0.80[ASN][1000 genomes]
rs838609	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838611	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs838614	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs838624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs838625	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs838626	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs838629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs838640	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs838641	0.92[ASN][1000 genomes]
rs838647	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs865709	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289663	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143159600-143200800	Weak transcription	Esophagus	oesophagus
2	chr3:143163400-143196800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:143163600-143187000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:143163800-143196400	Weak transcription	Fetal Stomach	stomach
5	chr3:143163800-143203400	Weak transcription	Ovary	ovary
6	chr3:143170400-143185200	Weak transcription	Primary B cells from cord blood	blood
7	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
8	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:143177200-143200800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:143177800-143204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:143178000-143203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:143179400-143185000	Weak transcription	Primary T cells from cord blood	blood
13	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:143179800-143185600	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:143179800-143213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:143180200-143185400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:143180200-143200600	Weak transcription	Aorta	Aorta
18	chr3:143180400-143187200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:143180600-143190800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:143181400-143185400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:143181400-143186000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:143181800-143185000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:143181800-143192000	Weak transcription	Small Intestine	intestine
24	chr3:143182400-143187400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:143182400-143190800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:143182800-143185200	Weak transcription	Placenta	Placenta
27	chr3:143183000-143186000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:143183200-143185800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:143183200-143186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:143183200-143193000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:143183400-143185400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr3:143183800-143186600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:143183800-143192000	Weak transcription	Spleen	Spleen
34	chr3:143184000-143186000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:143184200-143185800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:143184200-143187200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:143184200-143187400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:143184200-143196800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:143184200-143198600	Weak transcription	Colonic Mucosa	Colon
40	chr3:143184400-143185800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:143184400-143186000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:143184400-143186400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:143184400-143186600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:143184600-143184800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:143184600-143185000	Weak transcription	Fetal Kidney	kidney
46	chr3:143184600-143186000	Strong transcription	Adipose Nuclei	Adipose
47	chr3:143184600-143186000	Strong transcription	Brain Hippocampus Middle	brain

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